SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS190593027 HTT Health Risk Conflicting classifications of pathogenicity —
RS190598500 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
RS1905998196 SUZ12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Imagawa-Matsumoto syndrome
RS190600127 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1906033837 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS190604150 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS1906051274 ZNF469 Health Risk Likely pathogenic —
RS1906054627 ZNF469 Health Risk Pathogenic —
RS190605644 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1906069048 ZNF469 Health Risk Likely pathogenic —
RS1906110243 ZNF469 Health Risk Pathogenic Brittle cornea syndrome 1, Brittle cornea syndrome 1
RS190612616 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS1906134276 ZNF469 Health Risk Pathogenic —
RS1906146144 COX4I1 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS1906174955 ZNF469 Health Risk Pathogenic —
RS190617851 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS190619495 DTNA Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 1, DTNA-related disorder
RS190620963 ADAM9 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 9, Cone-rod dystrophy 9
RS190623423 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS190624357 MUC5B Health Risk Conflicting classifications of pathogenicity —
RS1906247824 COX4I1 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 16
RS190626072 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1906263385 PMP22 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, type I
RS190628299 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS1906290133 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1906294453 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS190631679 ALDOB Health Risk Pathogenic Hereditary fructosuria, Hereditary fructosuria
RS190636272 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS190640695 PIK3C2A Health Risk Conflicting classifications of pathogenicity PIK3C2A-related disorder, PIK3C2A-related disorder
RS190642059 ROM1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS1906421838 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1906423537 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1906450508 ZNF469 Health Risk Pathogenic/Likely pathogenic —
RS1906465563 DGKE Health Risk Pathogenic, low penetrance Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS1906488067 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1906529223 DGKE Health Risk Pathogenic Hemolytic uremic syndrome, atypical
RS190652985 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1906536457 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, COL1A1-related disorder
RS1906537608 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type III
RS190654033 ERBB4 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 19, Amyotrophic lateral sclerosis type 19
RS190655078 DLD Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase complex deficiency
RS1906559620 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Infantile cortical hyperostosis
RS1906565901 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS190657753 SPINK5 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Ichthyosis linearis circumflexa
RS1906581372 ZNF469 Health Risk Pathogenic —
RS1906585690 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1906591346 COL1A1 Health Risk Pathogenic —
RS1906604347 ZNF469 Health Risk Pathogenic —
RS1906658881 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1906659084 COL1A1 Health Risk Likely pathogenic Infantile cortical hyperostosis, Infantile cortical hyperostosis
RS1906662179 ZNF469 Health Risk Likely pathogenic Brittle cornea syndrome 1, Brittle cornea syndrome 1
RS190666668 COL6A5 Health Risk Conflicting classifications of pathogenicity COL6A5-related disorder, COL6A5-related disorder
RS1906687546 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS1906688548 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS1906689587 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1906695650 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1906697955 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS1906699127 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS190673127 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS190673256 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS190674457 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
RS1906756953 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS1906761196 COL1A1 Health Risk Pathogenic —
RS1906767501 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1906773628 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS190680402 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2
RS190680511 CEP41 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 15, CEP41-related disorder
RS190680846 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS190681011 PAX8 Health Risk Conflicting classifications of pathogenicity Hypothyroidism, congenital
RS1906818829 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1906821006 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1906821341 COL1A1 Health Risk Pathogenic —
RS1906842230 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1906843530 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1906846472 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1906847588 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS190685228 CTAGE1 Health Risk Conflicting classifications of pathogenicity —
RS1906853874 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1906866028 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1906868595 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1906874191 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1906875264 COL1A1 Health Risk Likely pathogenic —
RS1906878217 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS190688700 OFD1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome I, Joubert syndrome
RS1906910979 KRT9 Health Risk Pathogenic —
RS190692217 MAN2C1 Health Risk Likely pathogenic Congenital disorder of deglycosylation 2, Congenital disorder of deglycosylation 2
RS190692435 NEFH Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis, Inborn genetic diseases
RS190693455 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS1906936483 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1906940130 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS1906940342 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS190695126 COQ8B Health Risk Pathogenic —
RS190695638 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1906960583 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS190698163 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS1906989648 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta
RS1907006084 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS1907006410 MLYCD Health Risk Likely pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS190701197 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS1907020116 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
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